ClinVar Miner

Submissions for variant NM_000133.3(F9):c.881G>A (p.Arg294Gln) (rs137852249)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851909 SCV000899974 pathogenic Hereditary factor VIII deficiency disease 2019-02-01 criteria provided, single submitter research
Invitae RCV000814168 SCV000954569 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 294 of the F9 protein (p.Arg294Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals affected with hemophilia B (PMID: 2472424, 19699296, 22544209). This variant is also known as p.Arg248Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 10602). Experimental studies have shown that this missense change impairs intracellular trafficking of factor IX (PMID: 29993188). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011348 SCV000031580 pathogenic Hereditary factor IX deficiency disease 1992-03-01 no assertion criteria provided literature only

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